Prenatal diagnosis of Batten's disease

Lancet

Volumn 347, Issue 9007, 1996, Pages 1014-1015

  Munroe, Patricia B ^a   Rapola, Juhani ^b   Mitchison, Hannah M ^a   Mustonen, Aki ^c   Mole, Sara E ^a   Gardiner, R Mark ^a   Järvelä, Irma ^d  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b UNIVERSITY OF HELSINKI   (Finland)

^c TAMPERE UNIVERSITY HOSPITAL   (Finland)

^d NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CHORION VILLUS; CHORION VILLUS SAMPLING; ELECTRON MICROSCOPY; FEMALE; FETUS; FINLAND; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC MARKER; GENOTYPE; HUMAN; MALE; NEURONAL CEROID LIPOFUSCINOSIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0029985624     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(96)90148-8     Document Type: Article

References (9)

1. Santavuori P. Neuronal ceroid lipofuscinoses in childhood. Brain Dev 1989; 10: 80-83.
2. Gardiner RM, Sandford A, Deadman M, et al. Batten diease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid lipofuscinosis) gene (CLN3) maps to human chromosome 16. Genomics 1990; 8: 387-90.
3. Mitchison HM, Taschner PEM, O'Rawe AM, et al. Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association. Genomics 1994; 22: 465-68.
4. The International Batten disease Consortium. Isolation of a novel gene underlying Batten disease (CLN3). Cell 1995; 82: 949-57.
5. Rapola J, Salonen R, Ämmälä P, Santavuori P. Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi. Prenat Diagn 1990; 10: 553-59.
6. Carpenter S, Karpati G, Andermann F, et al. The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease. Brain 1977; 100: 137-56.
7. Mitchison HM, O'Rawe AM, Taschner PEM, et al. Batten disease gene (CLN3): linkage disequilibrium in the Finnish population and analysis of European haplotypes. Am J Hum Genet 1995; 56: 654-62.
8. Lake BD, Padayachee M, Perham TGM, Lunt PW. Prenatal diagnosis of juvenile Batten disease (CLN3). 41st annual meeting of paediatric pathology society. Bordeaux, France, 1995: abstr C5.
9. Syvänen AC, Ikonen E, Manninen T, et al. Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics 1992; 12: 590-95.